Variant report

Variant	rs59471650
Chromosome Location	chr2:134479216-134479217
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16829423	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16829506	1.00[EUR][1000 genomes]
rs16829743	1.00[EUR][1000 genomes]
rs34979285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56170261	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57028673	1.00[EUR][1000 genomes]
rs58799403	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59785320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61290996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61465743	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6430445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6726548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6745294	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6753469	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6757963	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73002520	0.85[AMR][1000 genomes]
rs73003855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73003879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73003897	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73003900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73005709	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73005714	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73005722	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73005734	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73007661	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73957243	1.00[EUR][1000 genomes]
rs73960110	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7584447	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7589010	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134475800-134484600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:134476200-134479600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:134478000-134484400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:134478000-134484400	Weak transcription	Osteobl	bone
5	chr2:134478600-134479600	Enhancers	Ovary	ovary
6	chr2:134478800-134479400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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